{
    "disease_id": "DOID:0080576",
    "recommended_name": {
        "id": "DOID:0080576",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080576",
        "name": "spondyloepimetaphyseal dysplasia, Genevieve-type",
        "description": "A spondyloepimetaphyseal dysplasia that is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses and has_material_basis_in homozygous or compound heterozygous mutation in the NANS gene on chromosome 9q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0012495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012495",
            "name": "spondyloepimetaphyseal dysplasia, Genevieve type",
            "description": "A rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips."
        },
        {
            "id": "MONDO:0012495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012495",
            "name": "SEMD, Genevive type",
            "description": ""
        },
        {
            "id": "MONDO:0012495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012495",
            "name": "SEMDG",
            "description": ""
        },
        {
            "id": "MONDO:0012495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012495",
            "name": "spondyloepimetaphyseal dysplasia, Camera-Genevieve type",
            "description": ""
        },
        {
            "id": "MONDO:0012495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012495",
            "name": "spondyloepimetaphyseal dysplasia, Genevieve type",
            "description": ""
        },
        {
            "id": "MONDO:0012495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012495",
            "name": "SEMD Genevieve type",
            "description": ""
        },
        {
            "id": "MONDO:0012495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012495",
            "name": "spondyloepimetaphyseal dysplasia Genevieve type",
            "description": ""
        },
        {
            "id": "MIM:610442",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610442",
            "name": "Spondyloepimetaphyseal dysplasia, Genevieve type",
            "description": "Spondyloepimetaphyseal dysplasia, Genevieve type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080576"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080576",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080576",
            "categories": []
        },
        {
            "id": "MONDO:0012495",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012495",
            "categories": []
        },
        {
            "id": "MIM:610442",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610442",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q99J77-1",
            "uniprot_ac": "Q99J77",
            "uniprot_id": "SIAS_MOUSE",
            "refseq_ac": "NP_444409",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-acetylneuraminate-9-phosphate synthase",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.57",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylneuraminate-9-phosphate synthase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylneuraminate-9-phosphate synthase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylneuraminic acid 9-phosphate synthetase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylneuraminic acid phosphate synthase",
                    "type": "synonym"
                },
                {
                    "name": "Sialic acid synthase",
                    "type": "synonym"
                },
                {
                    "name": "sialic acid synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nans",
                    "type": "recommended"
                },
                {
                    "name": "4632418E04Rik",
                    "type": "synonym"
                },
                {
                    "name": "Nans",
                    "type": "synonym"
                },
                {
                    "name": "Sas",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99J77-1",
            "evidence": [
                {
                    "id": "0080576",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080576"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NR45-1",
            "uniprot_ac": "Q9NR45",
            "uniprot_id": "SIAS_HUMAN",
            "refseq_ac": "NP_061819",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-acetylneuraminate-9-phosphate synthase",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.132",
                    "type": "synonym"
                },
                {
                    "name": "2.5.1.57",
                    "type": "synonym"
                },
                {
                    "name": "3-deoxy-D-glycero-D-galacto-nononate 9-phosphate synthase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylneuraminate-9-phosphate synthase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylneuraminic acid phosphate synthase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylneuraminic acid synthase",
                    "type": "synonym"
                },
                {
                    "name": "NANS",
                    "type": "synonym"
                },
                {
                    "name": "Sialic acid phosphate synthase",
                    "type": "synonym"
                },
                {
                    "name": "Sialic acid synthase",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory protein Li 100",
                    "type": "synonym"
                },
                {
                    "name": "sialic acid phosphate synthase",
                    "type": "synonym"
                },
                {
                    "name": "sialic acid synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NANS",
                    "type": "recommended"
                },
                {
                    "name": "HEL-S-100",
                    "type": "synonym"
                },
                {
                    "name": "NANS",
                    "type": "synonym"
                },
                {
                    "name": "SAS",
                    "type": "synonym"
                },
                {
                    "name": "SEMDCG",
                    "type": "synonym"
                },
                {
                    "name": "SEMDG",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NR45-1",
            "evidence": [
                {
                    "id": "0012495",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0012495"
                },
                {
                    "id": "610442",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610442"
                },
                {
                    "id": "0080576",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080576"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B1WC26-1",
            "uniprot_ac": "B1WC26",
            "uniprot_id": "B1WC26_RAT",
            "refseq_ac": "NP_001100125",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-acetylneuraminate-9-phosphate synthase",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.57",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylneuraminic acid phosphate synthase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylneuraminic acid synthase",
                    "type": "synonym"
                },
                {
                    "name": "Sialic acid synthase",
                    "type": "synonym"
                },
                {
                    "name": "sialic acid synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nans",
                    "type": "recommended"
                },
                {
                    "name": "Nans",
                    "type": "synonym"
                }
            ],
            "record_id": "B1WC26-1",
            "evidence": [
                {
                    "id": "0080576",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080576"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VG74-1",
            "uniprot_ac": "Q9VG74",
            "uniprot_id": "SIAS_DROME",
            "refseq_ac": "NP_650195",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-acetylneuraminate-9-phosphate synthase",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.132",
                    "type": "synonym"
                },
                {
                    "name": "2.5.1.57",
                    "type": "synonym"
                },
                {
                    "name": "3-deoxy-D-glycero-D-galacto-nononate 9-phosphate synthase",
                    "type": "synonym"
                },
                {
                    "name": "CG5232-PA",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylneuraminic acid phosphate synthase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylneuraminic acid synthase",
                    "type": "synonym"
                },
                {
                    "name": "NANS-PA",
                    "type": "synonym"
                },
                {
                    "name": "Neu5Ac synthase",
                    "type": "synonym"
                },
                {
                    "name": "Sialic acid synthase",
                    "type": "synonym"
                },
                {
                    "name": "sialic acid phosphate synthase",
                    "type": "synonym"
                },
                {
                    "name": "sialic acid synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nans",
                    "type": "recommended"
                },
                {
                    "name": "CG5232",
                    "type": "synonym"
                },
                {
                    "name": "DmSAS",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5232",
                    "type": "synonym"
                },
                {
                    "name": "NANS",
                    "type": "synonym"
                },
                {
                    "name": "Nans",
                    "type": "synonym"
                },
                {
                    "name": "Neu5Ac",
                    "type": "synonym"
                },
                {
                    "name": "SAS",
                    "type": "synonym"
                },
                {
                    "name": "Sas",
                    "type": "synonym"
                },
                {
                    "name": "sas",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VG74-1",
            "evidence": [
                {
                    "id": "0080576",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080576"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080576"
}